Frequency of congenital anomalies in Hirschsprung disease

Data from a study of 106 patients with HD who underwent systematic screening for congenital anomalies. Syndromic HD represented 9.4% of patients and included Down syndrome (6.6% of all patients), Turner syndrome, cat-eye syndrome, and congenital central hypoventilation syndromes.

HD: Hirschsprung disease; CAKUT: congenital anomalies of the kidney and urinary tract; CNS: central nervous system.
* Ophthalmologic abnormalities were mostly refractive errors (hyperopia, astigmatism, or myopia), strabismus, or amblyopia. No major ocular anomalies were detected. Visual impairment was present in 9.4%.
¶ CNS anomalies included agenesis of the corpus callosum; no other major brain abnormalities were detected.
Δ Other anomalies included metabolic issues (growth hormone deficiency, hypothyroidism, or precocious puberty), gastrointestinal anomalies (atresia, pancreas anularis or malrotation), familial medullary thyroid carcinoma, cryptorchidism, epilepsy, and cleft palate.

Data from Pini Prato A, Rossi V, Mosconi M, et al. A prospective observational study of associated anomalies in Hirschsprung's disease. Orphanet Journal of Rare Diseases. 2013; 8:184.

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Frequency of congenital anomalies in Hirschsprung disease